title: Effect of variation of ABCB1 and ABCC3 genotypes on the survival of bone tumor cases after chemotherapy.
abstract: We conducted a comprehensive study to investigate the role of genes involved in transport pathways in response to chemotherapy and clinical outcome of osteosarcoma cases. Genotyping of six SNPs was performed in a 384-well plate format on the Sequenom MassARRAY platform for 208 osteosarcoma patients to reveal any correlations of the six SNPs with response to chemotherapy and clinical outcome. Individuals with the ABCB1 rs1128503 TT and ABCC3 rs4148416 TT genotypes had a higher probability of responding poorly to chemotherapy, indicated by odds ratios (ORs) of 2.46 (95%CI, 1.21-5.74) and 3.78 (95% CI, 1.20-13.85), respectively. Moreover, the ABCB1 rs1128503 TT and ABCC3 rs4148416 TT genotypes were significantly associated with shorter disease- free survival (DFS) and overall survival (OS). Our study found the two SNPs in two transporter genes and one phase II metabolism enzyme to be associated with response to chemotherapy and overall survival in osteosarcoma patients, suggesting potential prognostic biomarker applications of the two SNPs.
authors.affiliation: Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai, China E-mail : xuyuanlan699@126.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.forename: Zhi-Gang
authors.initials: ZG
authors.lastname: Wang
authors.forename: Hai-Qing
authors.initials: HQ
authors.lastname: Cai
authors.forename: Yu-Chan
authors.initials: YC
authors.lastname: Li
authors.forename: Yun-Lan
authors.initials: YL
authors.lastname: Xu
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001859:Bone Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*; D017024:Chemotherapy, Adjuvant; D002648:Child; D002945:Cisplatin / Q000008:administration & dosage; D003609:Dactinomycin / Q000008:administration & dosage; D004317:Doxorubicin / Q000008:administration & dosage; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008727:Methotrexate / Q000008:administration & dosage; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009362:Neoplasm Metastasis; D009364:Neoplasm Recurrence, Local / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*; D009367:Neoplasm Staging; D012516:Osteosarcoma / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D015996:Survival Rate; D014750:Vincristine / Q000008:administration & dosage; D055815:Young Adult
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D002945:Cisplatin; D003609:Dactinomycin; D004317:Doxorubicin; D008727:Methotrexate; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D014750:Vincristine; C513055:ABCB1 protein, human; C114462:multidrug resistance-associated protein 3